Canonical Allele Identifier: CA564898724

Gene: FGFR4

Linked Data

• dbSNP Id: rs765374672
• gnomAD v2: 5-176520279-C-CCCCG
• gnomAD v4: 5-177093278-C-CCCCG
• MyVariant Identifiers: chr5:g.176520283_176520284insCCCG (hg19) ; chr5:g.177093282_177093283insCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093289_177093292dup , CM000667.2:g.177093289_177093292dup	GRCh38
NC_000005.9:g.176520290_176520293dup , CM000667.1:g.176520290_176520293dup	GRCh37
NC_000005.8:g.176452896_176452899dup	NCBI36
NG_012067.1:g.11370_11373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1209_1212dup MANE Select	ENSP00000292408.4:p.Thr405ArgfsTer?
ENST00000292408.8:c.1209_1212dup	ENSP00000292408.4:p.Thr405ArgfsTer?
ENST00000393637.5:c.1058-43_1058-40dup	ENSP00000377254.1:n.1058-43_1058-40dup
ENST00000393648.6:c.1097+112_1098-114dup	ENSP00000377259.2:n.1097+112_1098-114dup
ENST00000502906.5:c.1209_1212dup	ENSP00000424960.1:p.Thr405ArgfsTer?
ENST00000508139.1:n.513_516dup
ENST00000511076.1:c.115_118dup
NM_001291980.1:c.1097+112_1098-114dup	NP_001278909.1:n.1097+112_1098-114dup
NM_002011.4:c.1209_1212dup	NP_002002.3:p.Thr405ArgfsTer?
NM_022963.3:c.1058-43_1058-40dup	NP_075252.2:n.1058-43_1058-40dup
NM_213647.2:c.1209_1212dup	NP_998812.1:p.Thr405ArgfsTer?
XM_005265838.2:c.1209_1212dup	XP_005265895.1:p.Thr405ArgfsTer?
XM_011534464.1:c.1302_1305dup	XP_011532766.1:p.Thr436ArgfsTer?
XM_011534465.1:c.891_894dup	XP_011532767.1:p.Thr299ArgfsTer?
XR_941090.1:n.1254_1257dup
NM_001354984.1:c.1209_1212dup	NP_001341913.1:p.Thr405ArgfsTer?
NM_213647.3:c.1209_1212dup MANE Select	NP_998812.1:p.Thr405ArgfsTer?
NM_001291980.2:c.1097+112_1098-114dup	NP_001278909.1:n.1097+112_1098-114dup
NM_001354984.2:c.1209_1212dup	NP_001341913.1:p.Thr405ArgfsTer?
NM_002011.5:c.1209_1212dup	NP_002002.3:p.Thr405ArgfsTer?